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Psychosis in a Patient with Muscular Dystrophy : Case Report and Literature Review
European Psychiatry, 2023 Introduction Knowledge about muscular dystrophies and in particular X-linked inherited disorders such as Duchenne and Becker Muscular Dystrophy has been gradually acquired as more research studies have been conducted to better understand the ...
O. Ali, H. Raai
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Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy [PDF]
, 2018 Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by ...
Díaz Manera, Jordi +6 more
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The muscular dystrophies [PDF]
Postgraduate Medical Journal, 1992 In 1879 William Gowers, the eminent British neurologist, painted a remarkably lucid word picture of Duchenne muscular dystrophy in his series of lectures on pseudohypertrophic muscular paralysis, published in the Lancet.' This disease, he said, is one of the most interesting, and at the same time most sad, of all those with which we have to deal ...
openaire +3 more sources
Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy [PDF]
, 2016 Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.
Conn, Kelly +7 more
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Testing the Feasibility of a Passive and Active Case Ascertainment System for Multiple Rare Conditions Simultaneously: The Experience in Three US States [PDF]
, 2016 Background: Owing to their low prevalence, single rare conditions are difficult to monitor through current state passive and active case ascertainment systems.
Mann, Joshua +6 more
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AAV-based gene therapies for the muscular dystrophies.
Human Molecular Genetics, 2019 Muscular dystrophy is a group of progressive genetic diseases affecting the musculature which are characterized by inflammatory infiltrates, necrosis and connective tissue and fat replacement of the affected muscles.
J. Crudele, J. Chamberlain
semanticscholar +1 more source
Review: Dystroglycan in the Nervous System [PDF]
, 2007 Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
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Limb-Girdle Muscular Dystrophies
Pediatric Neurology Briefs, 2003 The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
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Redox Homeostasis in Muscular Dystrophies
Cells, 2021 In recent years, growing evidence has suggested a prominent role of oxidative stress in the pathophysiology of several early- and adult-onset muscle disorders, although effective antioxidant treatments are still lacking.
Nicola Mosca +6 more
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Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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